Variant report

Variant	rs73414259
Chromosome Location	chr12:124093049-124093050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124092807-124093101	K562	blood:	n/a	n/a
2	POLR2A	chr12:124092826-124093367	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:124092903-124093207	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124091509..124094120-chr12:124098771..124100606,2	MCF-7	breast:
2	chr12:124085831..124093816-chr12:124094373..124101211,18	MCF-7	breast:
3	chr12:124068850..124070943-chr12:124092800..124095066,2	MCF-7	breast:
4	chr12:123848073..123850361-chr12:124091131..124093611,2	MCF-7	breast:
5	chr12:124091943..124093772-chr12:124096958..124098825,2	K562	blood:

No data

Variant related genes	Relation type
DDX55	TF binding region
ENSG00000247373	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000256092	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1707721	1.00[AMR][1000 genomes]
rs1707722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1707723	0.86[AFR][1000 genomes]
rs57056482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57890199	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59168328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60822223	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61611881	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414291	1.00[AMR][1000 genomes]
rs73414297	1.00[AMR][1000 genomes]
rs73416206	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416253	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73418120	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786453	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124087800-124102000	Weak transcription	Stomach Mucosa	stomach
2	chr12:124087800-124109600	Weak transcription	Right Atrium	heart
3	chr12:124088000-124099200	Weak transcription	Fetal Heart	heart
4	chr12:124088000-124107200	Strong transcription	K562	blood
5	chr12:124088200-124098800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:124088200-124116000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:124088200-124117000	Strong transcription	Fetal Stomach	stomach
8	chr12:124088400-124096800	Strong transcription	Ovary	ovary
9	chr12:124088400-124097400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:124088400-124102400	Strong transcription	HUVEC	blood vessel
11	chr12:124088400-124103000	Strong transcription	Left Ventricle	heart
12	chr12:124088400-124105800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:124088400-124108000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr12:124088400-124116000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:124088400-124116000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:124088400-124116000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:124088400-124116000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:124088400-124116000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:124088400-124116200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:124088400-124116800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:124088400-124117000	Strong transcription	Fetal Intestine Small	intestine
22	chr12:124088600-124093200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:124088600-124096800	Strong transcription	Spleen	Spleen
24	chr12:124088600-124099200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:124088600-124103000	Strong transcription	Lung	lung
26	chr12:124088600-124104800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:124088600-124107400	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr12:124088600-124116000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:124088600-124116000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:124088600-124116000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:124088600-124116000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:124088600-124116000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:124088600-124116000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:124088600-124116200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:124088600-124116200	Strong transcription	Fetal Thymus	thymus
36	chr12:124088600-124116800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:124088600-124116800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:124088600-124116800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr12:124088600-124117000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:124088800-124098000	Strong transcription	A549	lung
41	chr12:124088800-124102800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr12:124088800-124107600	Strong transcription	NH-A	brain
43	chr12:124088800-124116000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:124088800-124116000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:124088800-124116000	Strong transcription	Fetal Intestine Large	intestine
46	chr12:124089000-124105800	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:124089000-124107400	Strong transcription	Fetal Lung	lung
48	chr12:124089000-124116000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:124089000-124116200	Strong transcription	Brain Germinal Matrix	brain
50	chr12:124089200-124094000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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